Breast cancer is the most common cancer among women with more than 53,000 new cases every year in France. The PI3K/AKT pathway is one of the major pathways involved in mammary tumorigenesis. The first effector of this pathway downstream Human Epidermal growth factor Receptor (HER receptors) is the enzyme phosphatidyl-inositol-3-kinase (PI3K). Some mutations in the gene encoding for the catalytic subunit of this enzyme, the PIK3CA gene, plays an important role, especially in the resistance to targeted therapies used clinically during the last decade. Indeed, the presence of alterations, an overexpression of the PI3K/AKT pathway, or the presence of PIK3CA mutation could explain some resistance to targeted therapies. PIK3CA mutations also appear to have a significant interest in the prediction of response to targeted therapies. Finally, many drugs in development, specifically targeting PI3K or other effectors of the PI3K/AKT pathway are intended to be administered only to patients with tumor bearing a mutation of PIK3CA, which makes the somatic mutations detection more and more important. The aim of this article is to consider biological aspects, clinical significance, diagnostic and theranostic interest of PIK3CA mutations in breast cancer.
Keywords: PI3Kinase; PIK3CA; breast cancer; molecular diagnostics; theranostics.